### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IRS1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "{{iNote}}" "IRS1" "insulin receptor substrate 1" "2" "q36" "unknown" "NC_000002.11" "UD_138305954679" "" "" "" "1" "1" "6125" "3667" "" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-11-26 22:04:09" "" "" "00000" "2013-11-26 22:04:09" "" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "{{chrom}}" "00003121" "IRS1" "insulin receptor substrate 1" "001" "NM_005544.2" "" "NP_005535.1" "" "" "" "-52" "8684" "3729" "227596033" "227663506" "00000" "2013-11-26 22:04:09" "" "" "" "2" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00102" "NIDDM" "Diabetes mellitus, noninsulin-dependent, 125853 (3)" "125853" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "IRS1" "00102" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 8 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000000880" "0" "99" "2" "227661632" "227661632" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-11 14:06:13" "IRS1_000001" "g.227661632G>A" "" "{PMID:12679424:12679424}" "" "rs104893642" "subst" "0" "; clinVar; Ensembl;" "4.210" "" "" "" "" "MSCV_0000880" "" "0000000881" "0" "99" "2" "227661632" "227661632" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-07-19 03:46:42" "IRS1_000002" "g.227661632G>C" "" "{PMID:12679424:12679424}" "" "rs104893642" "subst" "0" "; clinVar; Ensembl;" "4.210" "" "" "" "" "MSCV_0000881" "" "0000019632" "0" "55" "2" "227660220" "227660220" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 14:42:17" "IRS1_000004" "g.227660220G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019632" "" "0000019633" "0" "33" "2" "227661003" "227661003" "subst" "51" "0.00953553" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-14 13:37:30" "IRS1_000005" "g.227661003C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019633" "" "0000019634" "0" "33" "2" "227661396" "227661398" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 14:19:11" "IRS1_000006" "g.227661396_227661398del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019634" "" "0000019635" "0" "99" "2" "227661632" "227661632" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 14:48:47" "IRS1_000002" "g.227661632G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000881" "" "0000019636" "0" "11" "2" "227661921" "227661921" "subst" "35" "0.01507" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 14:06:46" "IRS1_000003" "g.227661921C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019636" "" "0000025918" "0" "00" "2" "227661286" "227661288" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:15:59" "IRS1_000007" "g.227661286_227661288del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 8 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000000880" "00003121" "99" "1823" "0" "1823" "0" "c.1823C>T" "1/2" "p.(Thr608Met)" "r.(?)" "possibly_damaging(0.53)" "" "missense_variant" "" "" "tolerated(0.11)" "0000000881" "00003121" "99" "1823" "0" "1823" "0" "c.1823C>G" "1/2" "p.(Thr608Arg)" "r.(?)" "benign(0.13)" "" "missense_variant" "" "" "tolerated(0.58)" "0000019632" "00003121" "00" "3235" "0" "3235" "0" "c.3235C>T" "" "p.(Pro1079Ser)" "r.(?)" "" "" "" "" "" "-" "0000019633" "00003121" "00" "2452" "0" "2452" "0" "c.2452G>C" "" "p.(Gly818Arg)" "r.(?)" "" "" "" "" "" "-" "0000019634" "00003121" "00" "2057" "0" "2059" "0" "c.2057_2059del" "" "p.(Ser686del)" "r.(?)" "" "" "" "" "" "-" "0000019635" "00003121" "00" "1823" "0" "1823" "0" "c.1823C>G" "" "p.(Thr608Arg)" "r.(?)" "" "" "" "" "" "-" "0000019636" "00003121" "00" "1534" "0" "1534" "0" "c.1534G>C" "" "p.(Ala512Pro)" "r.(?)" "" "" "" "" "" "-" "0000025918" "00003121" "00" "2167" "0" "2169" "0" "c.2167_2169del" "" "p.(Gly723del)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0